Gene Symbol | TMEM126B |
Entrez Gene ID | 55863 |
Full Name | transmembrane protein 126B |
Synonyms | HT007 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex I deficiency, 252010 (3) |